Incidental Mutation 'R3693:Ces2e'
| ID |
268862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2e
|
| Ensembl Gene |
ENSMUSG00000031886 |
| Gene Name |
carboxylesterase 2E |
| Synonyms |
Ces5, 9030624L02Rik |
| MMRRC Submission |
040688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R3693 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105652892-105661304 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105655443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 122
(D122G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034355]
[ENSMUST00000109410]
|
| AlphaFold |
Q8BK48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034355
AA Change: D122G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034355
Gene: ENSMUSG00000031886
AA Change: D122G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
11 |
538 |
1.2e-174 |
PFAM |
|
Pfam:Abhydrolase_3
|
143 |
252 |
4.6e-11 |
PFAM |
|
Pfam:Peptidase_S9
|
159 |
296 |
2.3e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109410
AA Change: D122G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105037
Gene: ENSMUSG00000031886
AA Change: D122G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
9 |
538 |
1.7e-171 |
PFAM |
|
Pfam:Abhydrolase_3
|
143 |
246 |
6.6e-11 |
PFAM |
|
Pfam:Peptidase_S9
|
158 |
276 |
2.1e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.2301 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,874,229 (GRCm39) |
Y767C |
probably damaging |
Het |
| Cherp |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
8: 73,221,755 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,309,080 (GRCm39) |
Q111L |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp11b2 |
C |
T |
15: 74,727,857 (GRCm39) |
R75Q |
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 86,273,249 (GRCm39) |
K223E |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,027,293 (GRCm39) |
I294V |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,152,904 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
A |
G |
12: 80,527,467 (GRCm39) |
Y220C |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,774,999 (GRCm39) |
E533G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,177,685 (GRCm39) |
Y178F |
probably damaging |
Het |
| Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,234,946 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
C |
A |
16: 14,035,813 (GRCm39) |
E1038D |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,697,954 (GRCm39) |
Y297C |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,811,782 (GRCm39) |
K202E |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pcdha1 |
A |
T |
18: 37,065,361 (GRCm39) |
K675I |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,769,209 (GRCm39) |
I40T |
probably benign |
Het |
| Pip5k1a |
A |
T |
3: 94,985,498 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
G |
T |
7: 4,557,234 (GRCm39) |
Q687K |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,412,408 (GRCm39) |
C490S |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,341,971 (GRCm39) |
T887S |
probably benign |
Het |
| Ripk2 |
A |
T |
4: 16,127,695 (GRCm39) |
L349Q |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Tas2r143 |
G |
A |
6: 42,377,910 (GRCm39) |
V247I |
probably benign |
Het |
| Togaram1 |
A |
T |
12: 65,030,283 (GRCm39) |
Y1029F |
probably benign |
Het |
| Ugt1a6b |
A |
G |
1: 88,035,516 (GRCm39) |
T285A |
probably benign |
Het |
|
| Other mutations in Ces2e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01389:Ces2e
|
APN |
8 |
105,656,197 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02045:Ces2e
|
APN |
8 |
105,657,290 (GRCm39) |
splice site |
probably benign |
|
|
IGL02656:Ces2e
|
APN |
8 |
105,653,688 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02904:Ces2e
|
APN |
8 |
105,657,970 (GRCm39) |
missense |
probably benign |
|
|
IGL02972:Ces2e
|
APN |
8 |
105,653,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03244:Ces2e
|
APN |
8 |
105,655,451 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0585:Ces2e
|
UTSW |
8 |
105,656,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0762:Ces2e
|
UTSW |
8 |
105,656,496 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1004:Ces2e
|
UTSW |
8 |
105,656,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Ces2e
|
UTSW |
8 |
105,653,646 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1731:Ces2e
|
UTSW |
8 |
105,656,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2134:Ces2e
|
UTSW |
8 |
105,659,171 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3087:Ces2e
|
UTSW |
8 |
105,657,347 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4622:Ces2e
|
UTSW |
8 |
105,655,341 (GRCm39) |
splice site |
probably null |
|
|
R4873:Ces2e
|
UTSW |
8 |
105,653,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4875:Ces2e
|
UTSW |
8 |
105,653,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Ces2e
|
UTSW |
8 |
105,660,330 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5365:Ces2e
|
UTSW |
8 |
105,653,846 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5529:Ces2e
|
UTSW |
8 |
105,656,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5601:Ces2e
|
UTSW |
8 |
105,656,126 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5968:Ces2e
|
UTSW |
8 |
105,659,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6128:Ces2e
|
UTSW |
8 |
105,655,428 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7337:Ces2e
|
UTSW |
8 |
105,657,688 (GRCm39) |
splice site |
probably null |
|
|
R7363:Ces2e
|
UTSW |
8 |
105,659,632 (GRCm39) |
splice site |
probably null |
|
|
R7489:Ces2e
|
UTSW |
8 |
105,656,412 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7548:Ces2e
|
UTSW |
8 |
105,658,538 (GRCm39) |
missense |
probably benign |
|
|
R8068:Ces2e
|
UTSW |
8 |
105,659,629 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9426:Ces2e
|
UTSW |
8 |
105,656,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ces2e
|
UTSW |
8 |
105,659,030 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1088:Ces2e
|
UTSW |
8 |
105,657,979 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCAGGACAACTTGGAGG -3'
(R):5'- AGTGTTCAGCTGCCAATTGTG -3'
Sequencing Primer
(F):5'- CAACTTGGAGGGAAGTGGC -3'
(R):5'- CAGCTGCCAATTGTGGGTAAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation